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NM_007194.4(CHEK2):c.936dup (p.Val313fs) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 27, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000478216.1

Allele description [Variation Report for NM_007194.4(CHEK2):c.936dup (p.Val313fs)]

NM_007194.4(CHEK2):c.936dup (p.Val313fs)

Gene:
CHEK2:checkpoint kinase 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
22q12.1
Genomic location:
Preferred name:
NM_007194.4(CHEK2):c.936dup (p.Val313fs)
HGVS:
  • NC_000022.11:g.28699912dup
  • NG_008150.1:g.46925dup
  • NG_008150.2:g.46957dup
  • NM_001005735.2:c.1065dup
  • NM_001257387.2:c.273dup
  • NM_001349956.2:c.735dup
  • NM_007194.4:c.936dupMANE SELECT
  • NM_145862.2:c.936dup
  • NP_001005735.1:p.Val356fs
  • NP_001244316.1:p.Val92fs
  • NP_001336885.1:p.Val246fs
  • NP_009125.1:p.Val313fs
  • NP_665861.1:p.Val313fs
  • LRG_302t1:c.936dup
  • LRG_302:g.46957dup
  • LRG_302p1:p.Val313fs
  • NC_000022.10:g.29095900dup
  • NM_007194.3:c.936dupA
Protein change:
V246fs
Links:
dbSNP: rs1555915491
NCBI 1000 Genomes Browser:
rs1555915491
Molecular consequence:
  • NM_001005735.2:c.1065dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001257387.2:c.273dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001349956.2:c.735dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007194.4:c.936dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_145862.2:c.936dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000572932GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Jan 27, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000572932.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This duplication of one nucleotide in CHEK2 is denoted c.936dupA at the cDNA level and p.Val313SerfsX5 (V313SfsX5) at the protein level. The normal sequence, with the base that is duplicated in brackets, is ACAA[dupA]GTGG. The duplication causes a frameshift which changes a Valine to a Serine at codon 313, and creates a premature stop codon at position 5 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Based on the currently available information, we consider this duplication to be a likely pathogenic variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022